Incidental Mutation 'R9779:Ticrr'
| ID |
733909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ticrr
|
| Ensembl Gene |
ENSMUSG00000046591 |
| Gene Name |
TOPBP1-interacting checkpoint and replication regulator |
| Synonyms |
5730590G19Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R9779 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
79309944-79347896 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79328802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 647
(D647G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035977]
[ENSMUST00000206017]
[ENSMUST00000206591]
[ENSMUST00000206622]
|
| AlphaFold |
Q8BQ33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035977
AA Change: D647G
PolyPhen 2
Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: D647G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
|
Pfam:Treslin_N
|
211 |
1005 |
N/A |
PFAM |
|
low complexity region
|
1186 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1220 |
1235 |
N/A |
INTRINSIC |
|
low complexity region
|
1339 |
1359 |
N/A |
INTRINSIC |
|
low complexity region
|
1472 |
1480 |
N/A |
INTRINSIC |
|
low complexity region
|
1496 |
1514 |
N/A |
INTRINSIC |
|
low complexity region
|
1630 |
1643 |
N/A |
INTRINSIC |
|
low complexity region
|
1694 |
1707 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206017
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206591
AA Change: D647G
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206622
AA Change: D647G
PolyPhen 2
Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010]
PHENOTYPE: Mice homozygous for an ENU-induced allele are mostly hairless, with only a light patch of hair around the face and tail. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
T |
G |
11: 53,263,734 (GRCm39) |
Y251* |
probably null |
Het |
| Amdhd1 |
G |
T |
10: 93,370,474 (GRCm39) |
F121L |
possibly damaging |
Het |
| Apon |
A |
T |
10: 128,091,065 (GRCm39) |
T248S |
probably benign |
Het |
| Arhgap28 |
A |
T |
17: 68,152,764 (GRCm39) |
I719K |
probably benign |
Het |
| Atf7ip2 |
A |
T |
16: 10,055,044 (GRCm39) |
K270N |
possibly damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,291,919 (GRCm39) |
V881A |
probably damaging |
Het |
| Atp6v0a1 |
C |
T |
11: 100,924,938 (GRCm39) |
T341M |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,968,348 (GRCm39) |
V944A |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,230,786 (GRCm39) |
T1021K |
possibly damaging |
Het |
| Cyp26b1 |
T |
C |
6: 84,552,113 (GRCm39) |
T342A |
probably benign |
Het |
| Cyp2c37 |
A |
G |
19: 39,998,323 (GRCm39) |
E405G |
probably benign |
Het |
| Dab2 |
T |
C |
15: 6,460,525 (GRCm39) |
S478P |
probably benign |
Het |
| Diablo |
A |
G |
5: 123,662,132 (GRCm39) |
|
probably null |
Het |
| Dnajc8 |
A |
G |
4: 132,277,737 (GRCm39) |
E174G |
possibly damaging |
Het |
| Eif4g1 |
T |
C |
16: 20,498,251 (GRCm39) |
V336A |
probably damaging |
Het |
| Eif5a |
C |
T |
11: 69,810,021 (GRCm39) |
V41I |
probably benign |
Het |
| Epb41l5 |
C |
T |
1: 119,545,093 (GRCm39) |
|
probably null |
Het |
| F12 |
A |
C |
13: 55,566,012 (GRCm39) |
V565G |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,717,353 (GRCm39) |
T389N |
probably damaging |
Het |
| Galnt13 |
T |
A |
2: 54,623,062 (GRCm39) |
D69E |
probably benign |
Het |
| Golph3l |
C |
T |
3: 95,499,041 (GRCm39) |
T61I |
probably damaging |
Het |
| Grm3 |
A |
T |
5: 9,561,656 (GRCm39) |
N731K |
possibly damaging |
Het |
| Hmgxb4 |
C |
T |
8: 75,750,629 (GRCm39) |
S484F |
possibly damaging |
Het |
| Hsd17b11 |
C |
A |
5: 104,157,771 (GRCm39) |
V114F |
probably damaging |
Het |
| Hspa1a |
C |
T |
17: 35,190,778 (GRCm39) |
V42M |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,654,065 (GRCm39) |
Y201C |
probably damaging |
Het |
| Inf2 |
C |
A |
12: 112,574,786 (GRCm39) |
P786T |
unknown |
Het |
| Ints12 |
T |
G |
3: 132,812,752 (GRCm39) |
V236G |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,348,147 (GRCm39) |
N818S |
probably damaging |
Het |
| Itgb4 |
T |
C |
11: 115,882,485 (GRCm39) |
L853P |
probably damaging |
Het |
| Kap |
A |
G |
6: 133,829,006 (GRCm39) |
V42A |
probably benign |
Het |
| Kcnk1 |
T |
C |
8: 126,751,807 (GRCm39) |
S138P |
probably damaging |
Het |
| Klra2 |
G |
A |
6: 131,198,801 (GRCm39) |
P247S |
unknown |
Het |
| Lrba |
T |
C |
3: 86,233,078 (GRCm39) |
I813T |
probably damaging |
Het |
| Lrrc27 |
A |
T |
7: 138,816,886 (GRCm39) |
Q428L |
possibly damaging |
Het |
| Macf1 |
G |
A |
4: 123,348,789 (GRCm39) |
T4046I |
probably benign |
Het |
| Mast3 |
T |
C |
8: 71,238,127 (GRCm39) |
T521A |
probably damaging |
Het |
| Meox1 |
T |
C |
11: 101,769,470 (GRCm39) |
E242G |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,886,009 (GRCm39) |
L316* |
probably null |
Het |
| Notch3 |
A |
G |
17: 32,372,757 (GRCm39) |
Y605H |
probably damaging |
Het |
| Nsf |
T |
C |
11: 103,719,352 (GRCm39) |
D650G |
probably damaging |
Het |
| Obscn |
C |
A |
11: 59,026,441 (GRCm39) |
R254L |
probably benign |
Het |
| Odam |
G |
A |
5: 88,037,327 (GRCm39) |
|
probably null |
Het |
| Or5v1b |
A |
T |
17: 37,841,048 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or7g12 |
A |
T |
9: 18,900,135 (GRCm39) |
M284L |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,535,253 (GRCm39) |
M416L |
probably benign |
Het |
| Plcz1 |
A |
T |
6: 139,947,882 (GRCm39) |
I500N |
possibly damaging |
Het |
| Prkn |
T |
C |
17: 11,854,318 (GRCm39) |
S285P |
possibly damaging |
Het |
| Rab14 |
G |
A |
2: 35,080,047 (GRCm39) |
T50I |
|
Het |
| Rag1 |
A |
T |
2: 101,474,153 (GRCm39) |
Y330N |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,643,479 (GRCm39) |
I911V |
probably damaging |
Het |
| Rasgrf1 |
G |
T |
9: 89,873,551 (GRCm39) |
C620F |
probably damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,214,317 (GRCm39) |
T143A |
probably damaging |
Het |
| Robo2 |
A |
C |
16: 73,767,965 (GRCm39) |
M609R |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Slc49a4 |
T |
C |
16: 35,543,186 (GRCm39) |
D316G |
probably benign |
Het |
| Sod3 |
G |
A |
5: 52,525,435 (GRCm39) |
V45I |
probably benign |
Het |
| Tmem119 |
G |
A |
5: 113,933,204 (GRCm39) |
S199L |
possibly damaging |
Het |
| Tmem63c |
T |
A |
12: 87,104,419 (GRCm39) |
I80N |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,066,469 (GRCm39) |
D752E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,550,570 (GRCm39) |
S31571P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,667,146 (GRCm39) |
S11487T |
unknown |
Het |
| Vmn1r123 |
T |
C |
7: 20,896,111 (GRCm39) |
M1T |
probably null |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,308 (GRCm39) |
S279T |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,798,972 (GRCm39) |
V3635A |
|
Het |
| Wdr95 |
A |
G |
5: 149,505,293 (GRCm39) |
D358G |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,108,064 (GRCm39) |
D8G |
possibly damaging |
Het |
| Zfp764l1 |
A |
T |
7: 126,991,469 (GRCm39) |
C173S |
probably damaging |
Het |
|
| Other mutations in Ticrr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Ticrr
|
APN |
7 |
79,327,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00596:Ticrr
|
APN |
7 |
79,327,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01327:Ticrr
|
APN |
7 |
79,344,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01525:Ticrr
|
APN |
7 |
79,332,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01565:Ticrr
|
APN |
7 |
79,344,296 (GRCm39) |
missense |
probably benign |
|
|
IGL01936:Ticrr
|
APN |
7 |
79,344,297 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02160:Ticrr
|
APN |
7 |
79,343,767 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02246:Ticrr
|
APN |
7 |
79,325,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02487:Ticrr
|
APN |
7 |
79,332,769 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02593:Ticrr
|
APN |
7 |
79,345,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02970:Ticrr
|
APN |
7 |
79,344,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4304:Ticrr
|
UTSW |
7 |
79,344,059 (GRCm39) |
intron |
probably benign |
|
|
PIT4305001:Ticrr
|
UTSW |
7 |
79,328,771 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4791001:Ticrr
|
UTSW |
7 |
79,319,386 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0016:Ticrr
|
UTSW |
7 |
79,343,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0062:Ticrr
|
UTSW |
7 |
79,317,654 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0062:Ticrr
|
UTSW |
7 |
79,317,654 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0067:Ticrr
|
UTSW |
7 |
79,327,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Ticrr
|
UTSW |
7 |
79,327,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Ticrr
|
UTSW |
7 |
79,327,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Ticrr
|
UTSW |
7 |
79,344,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0595:Ticrr
|
UTSW |
7 |
79,345,311 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1118:Ticrr
|
UTSW |
7 |
79,343,701 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1119:Ticrr
|
UTSW |
7 |
79,343,701 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1572:Ticrr
|
UTSW |
7 |
79,331,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1658:Ticrr
|
UTSW |
7 |
79,345,297 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1757:Ticrr
|
UTSW |
7 |
79,328,794 (GRCm39) |
nonsense |
probably null |
|
|
R1757:Ticrr
|
UTSW |
7 |
79,325,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1862:Ticrr
|
UTSW |
7 |
79,344,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Ticrr
|
UTSW |
7 |
79,328,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Ticrr
|
UTSW |
7 |
79,325,142 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1966:Ticrr
|
UTSW |
7 |
79,344,483 (GRCm39) |
nonsense |
probably null |
|
|
R2006:Ticrr
|
UTSW |
7 |
79,343,821 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2178:Ticrr
|
UTSW |
7 |
79,315,433 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3404:Ticrr
|
UTSW |
7 |
79,344,539 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3405:Ticrr
|
UTSW |
7 |
79,344,539 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3941:Ticrr
|
UTSW |
7 |
79,343,445 (GRCm39) |
intron |
probably benign |
|
|
R3950:Ticrr
|
UTSW |
7 |
79,331,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3951:Ticrr
|
UTSW |
7 |
79,331,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3952:Ticrr
|
UTSW |
7 |
79,331,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Ticrr
|
UTSW |
7 |
79,310,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4972:Ticrr
|
UTSW |
7 |
79,319,416 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5259:Ticrr
|
UTSW |
7 |
79,344,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5272:Ticrr
|
UTSW |
7 |
79,319,353 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5374:Ticrr
|
UTSW |
7 |
79,340,690 (GRCm39) |
nonsense |
probably null |
|
|
R5480:Ticrr
|
UTSW |
7 |
79,310,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Ticrr
|
UTSW |
7 |
79,345,044 (GRCm39) |
nonsense |
probably null |
|
|
R5568:Ticrr
|
UTSW |
7 |
79,339,715 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5588:Ticrr
|
UTSW |
7 |
79,328,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Ticrr
|
UTSW |
7 |
79,328,881 (GRCm39) |
missense |
probably benign |
|
|
R5879:Ticrr
|
UTSW |
7 |
79,346,438 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5980:Ticrr
|
UTSW |
7 |
79,310,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6128:Ticrr
|
UTSW |
7 |
79,343,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Ticrr
|
UTSW |
7 |
79,344,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6335:Ticrr
|
UTSW |
7 |
79,344,031 (GRCm39) |
splice site |
probably null |
|
|
R6866:Ticrr
|
UTSW |
7 |
79,343,705 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6905:Ticrr
|
UTSW |
7 |
79,315,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6923:Ticrr
|
UTSW |
7 |
79,341,601 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6962:Ticrr
|
UTSW |
7 |
79,315,645 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7232:Ticrr
|
UTSW |
7 |
79,343,490 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7285:Ticrr
|
UTSW |
7 |
79,310,610 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7385:Ticrr
|
UTSW |
7 |
79,341,597 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7426:Ticrr
|
UTSW |
7 |
79,343,734 (GRCm39) |
missense |
probably benign |
|
|
R7583:Ticrr
|
UTSW |
7 |
79,346,487 (GRCm39) |
nonsense |
probably null |
|
|
R7749:Ticrr
|
UTSW |
7 |
79,328,844 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7863:Ticrr
|
UTSW |
7 |
79,331,760 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7899:Ticrr
|
UTSW |
7 |
79,319,233 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7935:Ticrr
|
UTSW |
7 |
79,331,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8005:Ticrr
|
UTSW |
7 |
79,343,796 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8080:Ticrr
|
UTSW |
7 |
79,334,012 (GRCm39) |
splice site |
probably null |
|
|
R8181:Ticrr
|
UTSW |
7 |
79,310,728 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8349:Ticrr
|
UTSW |
7 |
79,344,428 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8410:Ticrr
|
UTSW |
7 |
79,317,423 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8449:Ticrr
|
UTSW |
7 |
79,344,428 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9073:Ticrr
|
UTSW |
7 |
79,317,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9090:Ticrr
|
UTSW |
7 |
79,310,604 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9271:Ticrr
|
UTSW |
7 |
79,310,604 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9287:Ticrr
|
UTSW |
7 |
79,343,516 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9368:Ticrr
|
UTSW |
7 |
79,330,735 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9469:Ticrr
|
UTSW |
7 |
79,344,511 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9502:Ticrr
|
UTSW |
7 |
79,343,597 (GRCm39) |
missense |
probably benign |
|
|
R9614:Ticrr
|
UTSW |
7 |
79,345,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9761:Ticrr
|
UTSW |
7 |
79,345,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTGTGGAACATTTCACG -3'
(R):5'- AGGATGTGCACTAAACCCAC -3'
Sequencing Primer
(F):5'- ACTGTGGAACATTTCACGTCATC -3'
(R):5'- CCAACCATCAAACACTACATTTATGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation